Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut WDFY3 23001 broad.mit.edu 37 4 85729569 85729569 + Splice_Site SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr4:85729569G>A ENST00000322366.6 - 15 2754 c.2345_splice c.e15-1 p.R783_splice WDFY3_ENST00000295888.4_Splice_Site_p.R783_splice|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 783 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGTTCTGCACGACTACAGACA 0.458000 77 136 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169578760 169578760 + Missense_Mutation SNP G G C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:169578760G>C ENST00000263686.6 - 8 1352 c.1315C>G c.(1315-1317)Cca>Gca p.P439A SELP_ENST00000367788.2_Missense_Mutation_p.P377A|SELP_ENST00000367786.2_Missense_Mutation_p.P377A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P377A|SELP_ENST00000367792.2_Missense_Mutation_p.P377A|SELP_ENST00000367793.2_Missense_Mutation_p.P377A|SELP_ENST00000458599.2_Missense_Mutation_p.P377A NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 439 Sushi 4. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ACTGGGGCTGGTGCTGTCCAC 0.493000 8 68 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541549 55541549 + Missense_Mutation SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr11:55541549C>A ENST00000361760.1 + 1 636 c.636C>A c.(634-636)agC>agA p.S212R NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) AGGTGAGCAGCCTAATTATCA 0.428000 44 77 6.5261e-18 7.3318e-18 1 1 0 LUM 4060 broad.mit.edu 37 12 91502249 91502249 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:91502249G>A ENST00000266718.4 - 2 962 c.508C>T c.(508-510)Cgg>Tgg p.R170W LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 170 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.R170R(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TCTTTCAGCCGATTGTGCTGG 0.443000 55 60 0 0 1 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469268 21469268 + Missense_Mutation SNP C C T rs2234637 byFrequency TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr14:21469268C>T ENST00000298681.4 + 4 617 c.460C>T c.(460-462)Cat>Tat p.H154Y SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 154 H -> Y (in dbSNP:rs2234637). cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) CAGCCATGGACATTTACCCTC 0.582000 7 96 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253908 134253908 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr11:134253908G>A ENST00000524765.1 - 3 4831 c.287C>T c.(286-288)cCg>cTg p.P96L B3GAT1_ENST00000392580.1_Missense_Mutation_p.P96L|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P96L|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P109L Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 96 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CTTCTGCACCGGGCGGCTGTA 0.701000 11 5 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979565 36979565 + Missense_Mutation SNP C C G TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr6:36979565C>G ENST00000274963.8 + 4 633 c.462C>G c.(460-462)atC>atG p.I154M NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 154 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TCTCCAACATCTCCTCCATCT 0.592000 29 60 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5155093 5155093 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:5155093G>A ENST00000252321.3 + 1 2009 c.1780G>A c.(1780-1782)Gtg>Atg p.V594M NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 594 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAAGAGCAACGTGGACTTGCG 0.587000 37 28 0 0 1 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 7 105 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366772 248366772 + Missense_Mutation SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:248366772C>A ENST00000456743.1 + 1 441 c.403C>A c.(403-405)Ctc>Atc p.L135I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATACACCAATCTCATGAGCCC 0.433000 132 199 3.87428e-42 4.5787e-42 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553474 140553474 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr5:140553474C>T ENST00000231137.3 + 1 1232 c.1058C>T c.(1057-1059)aCt>aTt p.T353I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 353 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTTCACTTACTAGCCCAATT 0.488000 21 43 0 0 1 0 0 TRMU 55687 broad.mit.edu 37 22 46733801 46733801 + Nonsense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr22:46733801C>T ENST00000290846.4 + 2 548 c.208C>T c.(208-210)Caa>Taa p.Q70* TRMU_ENST00000424260.2_Nonsense_Mutation_p.Q35*|TRMU_ENST00000381019.3_Nonsense_Mutation_p.Q70* NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 70 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) CCCTTTCCATCAAGTGTCCTA 0.483000 21 113 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54967865 54967865 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr4:54967865C>T ENST00000326902.2 + 2 1005 c.691C>T c.(691-693)Cgg>Tgg p.R231W FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 231 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) GTCTCGACTCCGGAGGATTGA 0.537000 57 111 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119345176 119345176 + Missense_Mutation SNP T T C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr6:119345176T>C ENST00000338891.7 - 2 1405 c.962A>G c.(961-963)gAc>gGc p.D321G RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.D201G|FAM184A_ENST00000521531.1_Missense_Mutation_p.D321G|FAM184A_ENST00000368475.4_Missense_Mutation_p.D201G|FAM184A_ENST00000352896.5_Missense_Mutation_p.D201G NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 321 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTGGCATTTGTCAAGAAGACT 0.338000 75 121 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36766264 36766264 + Missense_Mutation SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr6:36766264C>A ENST00000244751.2 - 5 919 c.295G>T c.(295-297)Gtt>Ttt p.V99F NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 99 C2 1. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTAGAGTCAACGTCGTATCTG 0.527000 11 27 0.000673444 0.000696402 1 1 0 ZNF724P 440519 broad.mit.edu 37 19 23406747 23406747 + Silent SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:23406747C>T ENST00000418100.1 - 4 417 c.300G>A c.(298-300)ctG>ctA p.L100L endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 CATATTTTCTCAGTATTATTC 0.328000 21 14 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904442 55904442 + Missense_Mutation SNP G G T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr11:55904442G>T ENST00000301529.1 - 1 752 c.753C>A c.(751-753)ttC>ttA p.F251L NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTGTCCCATAGAAAACCGTGA 0.408000 49 73 2.64894e-19 3.01317e-19 1 1 0 GPR37L1 9283 broad.mit.edu 37 1 202092407 202092407 + Silent SNP C C T rs77385011 TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:202092407C>T ENST00000367282.4 + 1 422 c.316C>T c.(316-318)Ctg>Ttg p.L106L NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 106 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GAGGGGCAATCTGACAGGAGC 0.632000 26 30 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658999 55658999 + Missense_Mutation SNP G G T rs149512476 TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr11:55658999G>T ENST00000449290.2 + 7 1342 c.1250G>T c.(1249-1251)gGt>gTt p.G417V TRIM51_ENST00000244891.3_Missense_Mutation_p.G274V NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 417 B30.2/SPRY. intracellular zinc ion binding GATTGTGAAGGTAGAACCGTG 0.468000 59 74 1.19403e-26 1.37541e-26 1 1 0 POLR2J4 84820 broad.mit.edu 37 7 44054270 44054270 + RNA SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr7:44054270C>T ENST00000427076.1 - 0 291 NR_003655.2 GTAAAGGCTTCCTGGGGGCTG 0.627000 7 137 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109357023 109357023 + Silent SNP A A T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr2:109357023A>T ENST00000283195.6 + 7 987 c.861A>T c.(859-861)ggA>ggT p.G287G NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 287 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAATGAAAGGACATTTCTACA 0.393000 158 228 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104164758 104164758 + Missense_Mutation SNP T T A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr10:104164758T>A ENST00000020673.5 - 14 2978 c.2452A>T c.(2452-2454)Agc>Tgc p.S818C PSD_ENST00000406432.1_Missense_Mutation_p.S818C NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 818 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TGGTGGATGCTGATGGCATTC 0.612000 19 32 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209353868 209353868 + Missense_Mutation SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr2:209353868C>A ENST00000272847.2 + 11 1421 c.1208C>A c.(1207-1209)tCc>tAc p.S403Y AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 403 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTCTTCAACTCCTTTCAGGTA 0.473000 36 36 1.60099e-16 1.7553e-16 1 1 0 BFSP1 631 broad.mit.edu 37 20 17475195 17475195 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr20:17475195C>T ENST00000377873.3 - 8 1561 c.1522G>A c.(1522-1524)Ggc>Agc p.G508S BFSP1_ENST00000544874.1_Missense_Mutation_p.G369S|BFSP1_ENST00000536626.1_Missense_Mutation_p.G369S|BFSP1_ENST00000377868.2_Missense_Mutation_p.G383S NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 508 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TCCACCTGGCCGTCATAAAGC 0.542000 5 75 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33272139 33272139 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:33272139C>T ENST00000373477.4 - 4 1362 c.454G>A c.(454-456)Gtg>Atg p.V152M NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 152 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TGCTTTACCACCTCAGCTCCA 0.547000 47 136 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64195968 64195968 + Missense_Mutation SNP T T C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:64195968T>C ENST00000261234.6 + 4 684 c.526T>C c.(526-528)Tat>Cat p.Y176H TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 176 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) AAAGATCTTTTATGCCACCCA 0.378000 8 53 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140732056 140732056 + Silent SNP T T A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr5:140732056T>A ENST00000523390.1 + 1 2229 c.2229T>A c.(2227-2229)acT>acA p.T743T PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAGGGGACTTTGCCCTATT 0.552000 18 94 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48677542 48677542 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr3:48677542G>A ENST00000544264.1 - 35 9771 c.9491C>T c.(9490-9492)cCc>cTc p.P3164L CELSR3_ENST00000164024.4_Missense_Mutation_p.P3159L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3159 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGCGGCGGGGCGGAGGCAG 0.706000 19 20 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524310 23524310 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr14:23524310G>A ENST00000397359.3 - 3 713 c.454C>T c.(454-456)Ctt>Ttt p.L152F CDH24_ENST00000267383.5_Missense_Mutation_p.L152F|CDH24_ENST00000554034.1_Missense_Mutation_p.L152F|CDH24_ENST00000487137.2_Missense_Mutation_p.L152F NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 152 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TAGGGCCCAAGGGGAAAAATG 0.597000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 21 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101598236 101598236 + Silent SNP G G T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr15:101598236G>T ENST00000284395.5 + 30 4960 c.4560G>T c.(4558-4560)ccG>ccT p.P1520P RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.P1523P Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1523 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGAAGGACCCGACTTTTGCCA 0.562000 19 34 8.00594e-06 8.37403e-06 1 1 0 KIAA1468 57614 broad.mit.edu 37 18 59919898 59919898 + Splice_Site SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr18:59919898C>A ENST00000256858.6 + 12 1983 c.1733_splice c.e12-1 p.Q579_splice KIAA1468_ENST00000398130.2_Splice_Site_p.Q579_splice Q9P260 K1468_HUMAN KIAA1468 579 binding p.Q579K(3) autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ATTTTTCAGGCAAATGATACT 0.383000 6 56 0.0293803 0.0293803 1 1 0 FKTN 2218 broad.mit.edu 37 9 108397458 108397458 + Silent SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr9:108397458G>A ENST00000223528.2 + 10 1423 c.1299G>A c.(1297-1299)acG>acA p.T433T FKTN_ENST00000448551.2_Intron|FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000357998.5_Intron|FKTN_ENST00000602661.1_Silent_p.T433T NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 433 muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 CTGTAAAGACGTGGGACTGGA 0.463000 73 78 0 0 1 0 0 PTCD1 26024 broad.mit.edu 37 7 99022765 99022765 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr7:99022765G>A ENST00000292478.4 - 6 1640 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R513W|PTCD1_ENST00000555673.1_Missense_Mutation_p.R513W NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AAGGCCAGCCGGTCAGCTGGG 0.652000 7 63 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13102633 13102633 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:13102633G>A ENST00000228887.1 - 1 685 c.686C>T c.(685-687)cCg>cTg p.P229L RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.P229L|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 229 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) CTGGAACTGCGGGTTGCCTCT 0.562000 37 97 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21843168 21843168 + Nonsense_Mutation SNP G G T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr8:21843168G>T ENST00000434536.1 + 13 1672 c.1570G>T c.(1570-1572)Gag>Tag p.E524* XPO7_ENST00000252512.9_Nonsense_Mutation_p.E515*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.E516* Q9UIA9 XPO7_HUMAN exportin 7 515 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CAGCACTGATGAGCAAGACGC 0.562000 80 107 6.86016e-32 8.00352e-32 1 1 0 C6orf58 352999 broad.mit.edu 37 6 127898604 127898604 + Missense_Mutation SNP C C G TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr6:127898604C>G ENST00000329722.7 + 1 286 c.274C>G c.(274-276)Ctg>Gtg p.L92V C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 92 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GGGGTTGCCTCTGCAGTATGG 0.378000 70 90 0 0 1 0 0 SRP54-AS1 100506157 broad.mit.edu 37 14 35409214 35409214 + RNA SNP T T C rs1967723 by1000genomes TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr14:35409214T>C ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA CAACTTCTAATTCATCTCGCC 0.448000 4 52 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15230293 15230293 + Missense_Mutation SNP T T C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:15230293T>C ENST00000263383.3 - 8 989 c.850A>G c.(850-852)Aag>Gag p.K284E ILVBL_ENST00000534378.1_Missense_Mutation_p.K177E|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 284 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 AGAGGCCTCTTGGCCCGGCTC 0.547000 7 43 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24582098 24582098 + Missense_Mutation SNP C C T rs116820424 by1000genomes TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr22:24582098C>T ENST00000358321.3 + 9 1715 c.1454C>T c.(1453-1455)gCg>gTg p.A485V NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 485 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 AGGGTGCAGGCGCGGGCCCAG 0.647000 3 27 0 0 1 0 0 LDLRAD2 401944 broad.mit.edu 37 1 22141024 22141024 + Silent SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:22141024C>T ENST00000344642.2 + 2 406 c.219C>T c.(217-219)ccC>ccT p.P73P LDLRAD2_ENST00000543870.1_Silent_p.P73P NM_001013693.2 NP_001013715.2 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain containing 2 73 integral to membrane receptor activity endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) CGGCAGCCCCCGGCGACCGGA 0.731000 19 26 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569031 49569031 + Missense_Mutation SNP C C G TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr3:49569031C>G ENST00000545947.1 + 6 1809 c.1087C>G c.(1087-1089)Cct>Gct p.P363A DAG1_ENST00000541308.1_Missense_Mutation_p.P363A|DAG1_ENST00000539901.1_Missense_Mutation_p.P363A|DAG1_ENST00000538711.1_Missense_Mutation_p.P363A|DAG1_ENST00000515359.2_Missense_Mutation_p.P363A|DAG1_ENST00000308775.2_Missense_Mutation_p.P363A NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 363 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGATCCTGTTCCTGGGAAACC 0.607000 42 112 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081316 152081316 + Silent SNP A A G rs143332338 by1000genomes TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:152081316A>G ENST00000368804.1 - 2 4376 c.4377T>C c.(4375-4377)cgT>cgC p.R1459R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1459 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTTTCTGTGACGCTCCTGGC 0.547000 10 189 0 0 1 0 0 AAK1 22848 broad.mit.edu 37 2 69736466 69736466 + Missense_Mutation SNP T T C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr2:69736466T>C ENST00000409085.4 - 14 2279 c.1903A>G c.(1903-1905)Att>Gtt p.I635V AAK1_ENST00000409068.1_Missense_Mutation_p.I635V|AAK1_ENST00000406297.3_Missense_Mutation_p.I635V NM_014911.3 NP_055726.3 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 635 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 TCACTGAGAATACGCCTGTGC 0.572000 46 54 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57642321 57642321 + Missense_Mutation SNP G G T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:57642321G>T ENST00000254181.4 + 4 2732 c.2278G>T c.(2278-2280)Gcc>Tcc p.A760S USP29_ENST00000598197.1_Missense_Mutation_p.A760S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 760 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAGCTGGATGCCCAGGAACA 0.488000 21 35 3.51602e-12 3.80902e-12 1 1 0 SMC2 10592 broad.mit.edu 37 9 106888954 106888954 + Missense_Mutation SNP G G T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr9:106888954G>T ENST00000286398.7 + 19 2772 c.2484G>T c.(2482-2484)gaG>gaT p.E828D SMC2_ENST00000303219.8_Missense_Mutation_p.E828D|SMC2_ENST00000374787.3_Missense_Mutation_p.E828D|SMC2_ENST00000374793.3_Missense_Mutation_p.E828D NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 828 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AACTGGAAGAGCTCAAGAGAG 0.353000 33 38 7.16026e-08 7.57655e-08 1 1 0 FAM129C 199786 broad.mit.edu 37 19 17651299 17651299 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:17651299C>T ENST00000335393.4 + 10 1309 c.1171C>T c.(1171-1173)Ctc>Ttc p.L391F FAM129C_ENST00000600871.1_Missense_Mutation_p.L337F|FAM129C_ENST00000599124.1_Missense_Mutation_p.L360F|FAM129C_ENST00000449408.2_Missense_Mutation_p.L117F|FAM129C_ENST00000599164.1_Missense_Mutation_p.L360F|FAM129C_ENST00000352727.3_Missense_Mutation_p.L391F|FAM129C_ENST00000332386.5_Missense_Mutation_p.L391F|FAM129C_ENST00000300971.2_Missense_Mutation_p.L391F|FAM129C_ENST00000595684.1_Missense_Mutation_p.L391F|FAM129C_ENST00000601861.1_Missense_Mutation_p.L360F NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 391 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GGAAGCCTCGCTCGAGGCGGT 0.721000 18 3 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14766109 14766109 + Missense_Mutation SNP T T A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:14766109T>A ENST00000261170.3 - 27 3300 c.3164A>T c.(3163-3165)aAa>aTa p.K1055I RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1055 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAGAGTGCCTTTTTTATAGCT 0.408000 21 334 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 12 13 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31082577 31082577 + Missense_Mutation SNP G G C TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr17:31082577G>C ENST00000318217.5 - 11 1704 c.1400C>G c.(1399-1401)aCc>aGc p.T467S MYO1D_ENST00000394649.4_Missense_Mutation_p.T379S|MYO1D_ENST00000579584.1_Missense_Mutation_p.T467S|MYO1D_ENST00000584232.1_5'UTR NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 467 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CATTTCATCGGTGACTTTGCC 0.413000 37 40 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36702000 36702000 + Missense_Mutation SNP A A T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr22:36702000A>T ENST00000216181.5 - 17 2365 c.2135T>A c.(2134-2136)gTg>gAg p.V712E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 712 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTGGAAGACCACCCTGTTGGG 0.672000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 36 64 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123435004 123435004 + Missense_Mutation SNP A A T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:123435004A>T ENST00000542678.1 - 3 3548 c.710T>A c.(709-711)aTt>aAt p.I237N ABCB9_ENST00000442028.2_Missense_Mutation_p.I237N|ABCB9_ENST00000280560.8_Missense_Mutation_p.I237N|ABCB9_ENST00000346530.5_Missense_Mutation_p.I237N|ABCB9_ENST00000540285.1_Missense_Mutation_p.I237N|ABCB9_ENST00000344275.7_Missense_Mutation_p.I237N|ABCB9_ENST00000392439.3_Missense_Mutation_p.I237N|ABCB9_ENST00000442833.2_Missense_Mutation_p.I237N Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 237 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CTACCTGCCAATGGCCAGCAG 0.632000 12 5 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94008911 94008911 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr14:94008911G>A ENST00000553484.1 + 14 1778 c.1624G>A c.(1624-1626)Gat>Aat p.D542N UNC79_ENST00000393151.2_Missense_Mutation_p.D542N|UNC79_ENST00000256339.4_Missense_Mutation_p.D365N|UNC79_ENST00000555664.1_Missense_Mutation_p.D542N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 542 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTATATGATGGATGATGAAGT 0.517000 44 28 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000402 14000402 + Missense_Mutation SNP G G A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:14000402G>A ENST00000454313.1 - 6 1325 c.1267C>T c.(1267-1269)Cct>Tct p.P423S C19orf57_ENST00000586783.1_Missense_Mutation_p.P423S|C19orf57_ENST00000346736.2_Missense_Mutation_p.P423S|C19orf57_ENST00000591586.1_Intron Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 423 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCGCTCCCAGGTGCCAGAGCC 0.627000 27 92 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236404 21236404 + Splice_Site SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr2:21236404C>T ENST00000233242.1 - 25 3971 c.3842_splice c.e25-1 p.D1282_splice NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1282 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACCCGGCCATCGCTGAAATGA 0.413000 38 61 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35453087 35453087 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr1:35453087C>T ENST00000357182.4 - 16 3823 c.3596G>A c.(3595-3597)aGt>aAt p.S1199N ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 1199 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) AAAACAGTCACTGAACACTTG 0.368000 59 77 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117780594 117780594 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr11:117780594C>T ENST00000528626.1 - 7 1004 c.931G>A c.(931-933)Ggc>Agc p.G311S TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G346S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G346S|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G346S NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 341 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TGGGTGGTGCCGAAGTGCAGA 0.627000 3 35 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119947910 119947910 + Missense_Mutation SNP C C T TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr4:119947910C>T ENST00000307142.4 + 3 582 c.386C>T c.(385-387)aCa>aTa p.T129I SYNPO2_ENST00000434046.2_Missense_Mutation_p.T129I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.T129I NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 129 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACCCAGTGCACAGAATTCTTC 0.502000 25 49 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212836 149212836 + Silent SNP C C G TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr5:149212836C>G ENST00000309241.5 + 5 1232 c.1200C>G c.(1198-1200)ccC>ccG p.P400P PPARGC1B_ENST00000360453.4_Silent_p.P361P|PPARGC1B_ENST00000403750.1_Silent_p.P336P|PPARGC1B_ENST00000394320.3_Silent_p.P400P NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 400 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAGCTTCACCCAAGAGCACCG 0.677000 4 70 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25011639 25011639 + Silent SNP A A G rs60849220 by1000genomes TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr20:25011639A>G ENST00000537502.1 - 1 1669 c.138T>C c.(136-138)ttT>ttC p.F46F ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Intron|ACSS1_ENST00000542618.1_Intron Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 0 Poly-Ala. acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GAGGAGGGCCAAAATGCAGAG 0.517000 3 18 0 0 1 0 0 SRP14 6727 broad.mit.edu 37 15 40330522 40330522 + Silent SNP C C A TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr15:40330522C>A ENST00000267884.6 - 3 242 c.171G>T c.(169-171)ctG>ctT p.L57L SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000559081.1_Silent_p.L57L NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 57 negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) TAGCTCTTAACAGACACTTGT 0.448000 40 62 4.32679e-17 4.80168e-17 1 1 0 AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 7 252 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 7 944 --- --- --- --- CRB2 286204 broad.mit.edu 37 9 126136215 126136216 + Frame_Shift_Ins INS - - G TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr9:126136215_126136216insG ENST00000359999.3 + 10 3496_3497 c.3405_3406insG c.(3403-3408)gcggggfs p.AG1135fs CRB2_ENST00000373631.3_Intron|CRB2_ENST00000373629.2_Intron Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 909 EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 ATGGCTGGGCAGGGGGGTGGGC 0.698 3 3 --- --- --- --- GOLGA2P5 55592 broad.mit.edu 37 12 100562920 100562921 + RNA INS - - T rs58822438 TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr12:100562920_100562921insT ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 GGTCTCATTTGTTTTttttttt 0.406 3 3 --- --- --- --- RP11-697E22.2 0 broad.mit.edu 37 17 36003614 36003614 + RNA DEL T T - rs10543338 TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr17:36003614delT ENST00000586163.1 + 0 590 RP11-697E22.2_ENST00000586950.1_RNA ATTAtttatcttttttttttt 0.507 2 4 --- --- --- --- EPS15L1 58513 broad.mit.edu 37 19 16528778 16528785 + Frame_Shift_Del DEL TCCGAAGG TCCGAAGG - TCGA-BA-A4IH-01A-11D-A25Y-08 TCGA-BA-A4IH-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx cde5f95c-db1d-420f-bc33-d32aa1b8d814 d61cf248-b477-4677-81b8-43448f607e3d g.chr19:16528778_16528785delTCCGAAGG ENST00000602009.1 - 5 1514_1521 c.619_626delCCTTCGGA c.(619-627)gfs p.PSE207fs EPS15L1_ENST00000594975.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000597937.1_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000535753.2_Frame_Shift_Del_p.PSE361fs|EPS15L1_ENST00000248070.6_Frame_Shift_Del_p.PSE361fs Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 361 EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CGTGCCTCTCTCCGAAGGCGGGACCATG 0.587 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 14 --- --- --- ---